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- W2362072032 abstract "Objective To establish a fast and effective gene diagnosis method for Wilson's disease(WD) patients by PCR-based restriction mapping analysis.Methods We amplificated exon8,exon12 and exon13 of ATP7B gene by PCR from genomic DNA,then analyzed by digestion with restriction enzymes MspI,TaiI and BstDsI respectively,and followed by 2 % gel electrophoresis of the cleavage products.142 unrelated WD patients and 30 unrelated normal controls were screened with this method and verified by direct sequencing.Results Arg778Leu of exon 8 was detected in 48.59%(69/142) patients.13 patients were homozygous and another 56 patients were heterozygous for this mutation.The frequency of the Arg778Leu was 28.87%(82/284).Thr935Met of exon 12 was detected in 5.63%(8/142) patients and 8 cases were all heterozygous for this mutation.The frequency of the Thr935Met was 2.82%(8/284).Pro992Leu of exon13 was detected in 24.65%(35/142) patients.3 patients were homozygous and another 32 patients were heterozygous for this mutation.The frequency of Pro992Leu was 13.38%(38/284).Among them,12 cases were compound heterozygous mutation with Arg778Leu /Pro992Leu,1 case was compound heterozygous mutation with Arg778Leu/Thr935Met,and 1 case was Arg778Leu homozygous mutation which combined with Pro992Leu heterozygous mutation.Mutations were detected in 69.01%(98/142) patients totally.The result of this method was the same as that of the DNA sequencing.Conclusion Pro992Leu of exon13 is a hotspot of mutation in Chinese WD patients.The method of restriction mapping can identify high frequency mutational sites of WD gene accurately and rapidly,and help to diagnose suspicious WD cases and their family members." @default.
- W2362072032 created "2016-06-24" @default.
- W2362072032 creator A5017235617 @default.
- W2362072032 date "2009-01-01" @default.
- W2362072032 modified "2023-09-24" @default.
- W2362072032 title "Rapid detection of high frequency mutational sites of Chinese Wilson's disease gene" @default.
- W2362072032 hasPublicationYear "2009" @default.
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